Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy / 临床耳鼻咽喉头颈外科杂志

ABSTRACT

OBJECTIVE@#To investigate if the DFNB59 gene contributes to the hearing loss of a Chinese pedigree with dominantly inherited auditory neuropathy (AN).@*METHOD@#Nine members in four generations of the family were selected for this study. Genomic DNA was isolated from the peripheral leukocytes of the patients using the pure gene DNA isolation kits. Firstly, the subjects DNA fragment was PCR amplified using specific primers corresponding to exon 2 and 4 of the DFNB59 gene. Each fragment was purified and subsequently analyzed by direct sequencing in an applied biosystems 3730 automated DNA sequencer. The whole coding sequence of DFNB59 gene of one family patient were then PCR amplified and submitted for sequence analysis as described above. The resultant sequence data were compared with the standard sequence to identify deafness-associated mutations.@*RESULT@#PCR amplifications were successfully conducted in all the subjects. We failed to detect the presence either of mutations T54I and R183W in the exon 2 and exon 4 that have been reported, or any other deafness-associated mutations in the whole DFNB59 gene, by sequence analysis.@*CONCLUSION@#The DFNB59 gene seems not contribute to the pathogenesis of this Chinese AN family, which suggesting new gene(s) involvement.